rs12247015 chr10:58385319 A>G

Sequence
ccgcggctcttattcctcccccgc[A/G]aggccgcccaccggggtacgctct
ASB in cell types
adrenal gland upper lobe of left lung prostate gland pancreas
ASB for transcription factors
CTCF_HUMAN INT13_HUMAN EGR1_HUMAN SPT5H_HUMAN

Color scale

color scale ref
-log10 FDR of Ref (A) ASB
color scale alt
-log10 FDR of Alt (G) ASB

Details

Uniprot ID
Effect size Ref
Effect size Alt
FDR Ref
FDR Alt
Mean BAD
Motif fold change
Motif concordance
CTCF_HUMAN 2.34 0.48 1.2·10-251.00 1.31 1.42 Weak Discordant
INT13_HUMAN 1.21 0.98 0.031.00 1.00 n/a n/a
EGR1_HUMAN 1.14 -0.19 0.041.00 1.40 -1.23 Weak Concordant
SPT5H_HUMAN 1.45 -0.48 0.041.00 1.00 n/a n/a
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Motif analysis

CTCF_HUMAN Weak Discordant
CTCF_HUMAN pic

Genetic associations

GRASP college completion,  ldl cholesterol change with statins
GTEx eQTL Adipose_Subcutaneous,  Adipose_Visceral_Omentum,  Adrenal_Gland,  Artery_Aorta,  Artery_Coronary,  Artery_Tibial,  Brain_Caudate_basal_ganglia,  Brain_Cerebellar_Hemisphere,  Brain_Cerebellum,  Brain_Cortex,  Brain_Frontal_Cortex_BA9,  Brain_Nucleus_accumbens_basal_ganglia,  Brain_Putamen_basal_ganglia,  Breast_Mammary_Tissue,  Cells_Cultured_fibroblasts,  Colon_Sigmoid,  Colon_Transverse,  Esophagus_Gastroesophageal_Junction,  Esophagus_Muscularis,  Heart_Atrial_Appendage,  Heart_Left_Ventricle,  Lung,  Nerve_Tibial,  Ovary,  Pituitary,  Prostate,  Stomach,  Thyroid,  Whole_Blood

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